Stapleton F B, Johnson D, Kaplan G W, Griswold W
J Pediatr. 1980 Oct;97(4):574-9. doi: 10.1016/s0022-3476(80)80011-4.
A characteristic cystic renal lesion is described in three infants with tuberous sclerosis. Large cystic kidneys were present at birth in one child. The other two patients were discovered to have cystic kidneys and hypertension at 3 months of age. Development delay and seizures were ultimately present in two infants; typical cutaneous lesions of tuberous sclerosis developed in only one child. The roentgenographic appearance of the kidneys in the two older children was similar to that of adult-type polycystic kidney disease. Cysts were lined by a distinctive, hyperplastic epithelium in each patient. The diagnosis of tuberous sclerosis may be determined by renal biopsy in infants presenting with cystic kidneys.
在三名患有结节性硬化症的婴儿中描述了一种特征性的肾囊性病变。一名患儿出生时即有巨大肾囊肿。另外两名患者在3个月大时被发现患有肾囊肿和高血压。两名婴儿最终出现发育迟缓及癫痫发作；只有一名儿童出现了结节性硬化症典型的皮肤病变。两名较大儿童的肾脏X线表现与成人型多囊肾病相似。每位患者的囊肿均内衬有独特的增生上皮。对于出现肾囊肿的婴儿，可通过肾活检来确定结节性硬化症的诊断。
